ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499233065
Gene: OTC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1028819
ClinVar RCV Id:
RCV001329969
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000522.3:p.Leu244Pro
CA412722291
NM_000531.6:c.731T>C